Associated Papers
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
Polovitskaya MM et al.
The Journal of Biological Chemistry, 2024
Distinct ClC-6 and ClC-7 Cl- sensitivities provide insight into ClC-7's role in lysosomal Cl- homeostasis.
Coppola MA et al.
The Journal of Physiology, 2023
Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.
Bug DS et al.
Genes, 2020
Molecular insights into the human CLC-7/Ostm1 transporter.
Zhang S et al.
Science Advances, 2020
Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
Bonapace G et al.
Italian Journal of Pediatrics, 2014
A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.
Sartelet A et al.
Disease Models & Mechanisms, 2014
A single point mutation reveals gating of the human ClC-5 Cl-/H+ antiporter.
De Stefano S et al.
The Journal of Physiology, 2013
Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.
Ludwig CF et al.
The Journal of Biological Chemistry, 2013
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
Cell biology and physiology of CLC chloride channels and transporters.
Stauber T et al.
Comprehensive Physiology, 2012
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
Leisle L et al.
The Embo Journal, 2011
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
Pangrazio A et al.
Human Mutation, 2010
A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.
Besbas N et al.
European Journal of Pediatrics, 2009
Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.
Campos-Xavier AB et al.
American Journal of Medical Genetics. Part A, 2005
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.
Waguespack SG et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
Cleiren E et al.
Human Molecular Genetics, 2001
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
Kornak U et al.
Cell, 2001